G83D (p.Gly83Asp) variant of CACNA2D2 (Q9NY47)
G83D (p.Gly83Asp) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G83D (p.Gly83Asp) variant details
- p.Gly83Asp
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56564
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.11
- MetaLR 0.02
- MetaSVM -0.93
- CADD 19.80
- PolyPhen-2 0.43
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available